Evidence map›Paper›PMID 35328504›Full record

ArticleInternational journal of molecular sciences2022

Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).

Sylvia Nieuwenhuis, Joanna Widomska, Paul Blom, Peter-Bram A C 't Hoen, Baziel G M van Engelen, Jeffrey C Glennon, On Behalf Of The Optimistic Consortium

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 53% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 2 countries.

Sylvia NieuwenhuisCenter for Molecular and Biomolecular Informatics (CMBI), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.ORCID 0000-0001-8254-7445
Joanna WidomskaDepartment of Cognitive Neuroscience, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, 6525 EN Nijmegen, The Netherlands.
Paul BlomVDL Enabling Technologies Group B.V., 5651 GH Eindhoven, The Netherlands.
Peter-Bram A C 't HoenCenter for Molecular and Biomolecular Informatics (CMBI), Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.
Baziel G M van EngelenDepartment of Neurology, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.
Jeffrey C GlennonDepartment of Cognitive Neuroscience, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Centre, 6525 EN Nijmegen, The Netherlands.ORCID 0000-0002-2371-0422
On Behalf Of The Optimistic Consortium
Radboud University Nijmegen · NLUniversity College Dublin · IE

Funding

European Commission 305697European Community E-RARE programme 18-038
6 · The paper itself

Abstract

The blood transcriptome was examined in relation to disease severity in type I myotonic dystrophy (DM1) patients who participated in the Observational Prolonged Trial In DM1 to Improve QoL- Standards (OPTIMISTIC) study. This sought to (a) ascertain if transcriptome changes were associated with increasing disease severity, as measured by the muscle impairment rating scale (MIRS), and (b) establish if these changes in mRNA expression and associated biological pathways were also observed in the Dystrophia Myotonica Biomarker Discovery Initiative (DMBDI) microarray dataset in blood (with equivalent MIRS/DMPK repeat length). The changes in gene expression were compared using a number of complementary pathways, gene ontology and upstream regulator analyses, which suggested that symptom severity in DM1 was linked to transcriptomic alterations in innate and adaptive immunity associated with muscle-wasting. Future studies should explore the role of immunity in DM1 in more detail to assess its relevance to DM1.

Indexed as

Myotonic DystrophyGene Expression ProfilingHumansQuality of LifeSeverity of Illness IndexTranscriptomebloodDM1 disease severityimmunitymuscle impairment rating scale (MIRS)myotonic dystrophy type 1 (DM1)pathway analysisRNA sequencing

Identifiers

PMID35328504
PMCPMC8954763
OpenAlexW4220980023

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.